mitochondrial neurogastrointestinal encephalomyopathy

Myoneurogastrointestinal encephalopathy, or mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE), is a multisystem disorder clinically characterized by onset between the second and fifth decades of life, ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility (often pseudoobstruction), diffuse leukoencephalopathy, thin body habitus, peripheral neuropathy, and myopathy.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal-recessive multisystemic disorder with predominant gastrointestinal involvement, presenting with variable degrees of gut dysmotility up to frank chronic intestinal pseudoobstruction.

The losso of the population of the interstitial cells of Cajal (ICC) might be an early pathogenetic event in MNGIE-associated gut motor dysfunction before significant myopathic and/or neuropathic structural changes occur.

Synopsis

 digestive smooth muscle mitochondrial myopathy

Etiology

 germline mutations in the ECGF1 gene encoding thymidine phosphorylase (MIM.131222).

 A form of MNGIE without leukoencephalopathy can be caused by a mutation in the DNA polymerase gamma gene (POLG) (MIM.174763).

Physiopathology

 Absence of the interstitial cell of Cajal network in mitochondrial neurogastrointestinal encephalomyopathy. (19368660)

See also

 chronic intestinal pseudo-obstruction (CIPO)
 pediatric intestinal pseudo-obstruction (PIPO)

References

 Absence of the interstitial cell of Cajal network in mitochondrial neurogastrointestinal encephalomyopathy. Zimmer V, Feiden W, Becker G, Zimmer A, Reith W, Raedle J, Lammert F, Zeuzem S, Hirano M, Menges M. Neurogastroenterol Motil. 2009 Jun;21(6):627-31. PMID: 19368660

 Mitochondrial neurogastrointestinal encephalomyopathy. Coşkun E, Ulusal G, Bulut N, Bektaş H, Oztekin MF, Yildirim IS. Turk J Gastroenterol. 2005 Sep;16(3):163-6. PMID: 16245230

 Perez-Atayde AR, Fox V, Teitelbaum JE, Anthony DA, Fadic R, Kalsner L, Rivkin M, Johns DR, Cox GF. Mitochondrial neurogastrointestinal encephalomyopathy: diagnosis by rectal biopsy. Am J Surg Pathol. 1998 Sep;22(9):1141-7. PMID: 9737248

 Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot-Marie-Tooth presentation. Said G, Lacroix C, Planté-Bordeneuve V, Messing B, Slama A, Crenn P, Nivelon-Chevallier A, Bedenne L, Soichot P, Manceau E, Rigaud D, Guiochon-Mantel A, Matuchansky C. J Neurol. 2005 Jun;252(6):655-62. PMID: 15742109